Human genes for osteogenesis imperfecta type 2
Osteogenesis imperfecta type 2 [DOID:0110341]
An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.
Synonyms: osteogenesis imperfecta type 2, DOID:0110341, OI2, osteogenesis imperfecta type II, perinatal lethal osteogenesis imperfecta congenita ...